Detalhe da pesquisa
1.
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
Genet Med
; 23(10): 1998-2002, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113009
2.
GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
Genet Med
; 23(5): 942-949, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531665
3.
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature
; 501(7468): 506-11, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037378
4.
Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.
Crit Rev Clin Lab Sci
; 54(2): 134-142, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132577
5.
Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process.
J Obstet Gynaecol Can
; 39(1): 10-17, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28062017
6.
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Trials
; 22(1): 56, 2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33446240
7.
The Role of Whole Genome and Whole Exome Sequencing in Preventive Genomic Sequencing Programs.
Am J Bioeth
; 15(7): 22-4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26147258
8.
Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
Life Sci Soc Policy
; 14(1): 17, 2018 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066179
9.
Is it research or is it clinical? Revisiting an old frontier through the lens of next-generation sequencing technologies.
Eur J Med Genet
; 61(10): 634-641, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704685
10.
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.
BMC Med Genomics
; 9(1): 52, 2016 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27514372
11.
Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.
Genome Med
; 8(1): 108, 2016 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27776531
12.
Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Trials
; 22(1): 146, 2021 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33593377
13.
Professionals' attitudes regarding large-scale genetic information generated through next generation sequencing in research: a pilot study.
J Empir Res Hum Res Ethics
; 9(3): 56-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25746785
14.
Genome-based newborn screening: a conceptual analysis of the best interests of the child standard.
Per Med
; 12(5): 439-441, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749887